Happy to take part in Rare Disease Day to help to tey to raise awareness of my own condition and the other rare conditions out there.
It does get frustrating that you have to explain what your rare condition is and still people do not understand what it is.
Interacting with fellow patients can be so important in being able to talk about your rare condition.
I have Kallmann syndrome, it is a rare condition. However I do not look ill.
I am overweight, but that is my own fault and no fault of the condition. So nobody can tell I have a rare condition. Before treatment I looked young for my age but that has improved since being on treatment.
I have to take testosterone since I did not go through puberty and can not make my own without taking medication. If I ever wanted to have children I would have to take another form of medication.
In a way I am fortunate having Kallmann syndrome has no painful physical symptoms or any reduction in life expectancy. If I stay on treatment there is no reason why I should not be perfectly healthy.
Nobody can tell I have medical condition unless I get into an intimate situation, when it then becomes more obvious. That part is hidden. Even though I am now on treatment, I still still did not go through a normal puberty so I am still underdeveloped in that area.
Also hidden are the psychological affects of not going through puberty and adolescence at the same time as anybody else, which has made emotional and physical relationships difficult.
My daughter live with her mom and stepdad full time. We have joint custody, but I'll spare you the whole story and summarize by saying the divorce was amicable and we agreed at the time that she'd stay with her mom. So my daughter is with me roughly every other weekend.
But lately she has started to have a real nasty attitude. Much of the nastiness is directed at her stepsister. My wife has a daughter from a previous relationship as well. They are nearly the same age. My daughter can be very rude and insulting at times. Very condescending. Unpleasant. Saying things like "choke and die" or "I'm smarter than you cuz I know my multiplication tables".
My stepdaughter usually just brushes it off but I'm also sure it is having an impact on her at some level.
I've brought it up with her when picking her up and taking her home trying to figure out why, and I don't get anything out of her. I've brought it up with her mom and that just seems to not go anywhere.
I know she's dealing with some things (her grandma is dying of cancer and lives with them and of course her mom and I getting a divorce about 5 years ago and then me getting remarried and bringing a stepsister into the mix), so I'm sure those things are contributing factors. Plus puberty.
We're firm about not being like that at our house, but It still happens sometimes. It causes issues between my wife and I as well cuz she doesn't seem to think I'm doing enough to stop it and I am literally doing everything I can and also trying to get to the root causes of it so I can actually maybe help my daughter come to grips with whatever it is that may ultimately be bothering her.
One of my pet hates is the the internet meme "Do not confuse my medical degree with your Google / Internet search."
Thankfully I have never physically met a doctor who has tried this on me but I have heard stories from fellow patients where similar thoughts have been expressed.
Patient advocates can help fellow patients with internet searching to allow patients to ask their doctors informed and relevant questions at appointments.
With any rare condition it should be a two way process when doctor and patient can learn about the condition together.
The idea that "doctor knows best" is not always true.
I have Kallmann syndrome which meant I never went through puberty. Outwardly it does not appear I have a medical condition. I used to look very young for my age before diagnosis but with testosterone driven hair loss that has changed a bit.
One annoying thing about the condition is that it is difficult for others, apart from fellow patients to understand it. Even when you do explain it a lot of people think I was just a late starter and all is normal now, somehow overlooking the fact I have to take life long testosterone therapy and am infertile.
I have Kallmann syndrome, a form of hypogonadotropic hypogonadism which causes puberty to fail, which in turn mean patients are normally infertile.
It is not a well-known condition and I was dismissed as a "late bloomer" or "late developer" even at the age of 23 after I had left university.
It is not an easy condition to talk to anybody about, the lack of physical development makes people feel shy and isolated and can have difficulty forming emotional and physical relationships. Even with treatment we still do not go through normal puberty and remain infertile unless we have expensive, difficult to obtain specialist hormone replacement therapy.
Even when diagnosed it is not an easy condition to talk about amongst friends or family due to the very private nature of the condition. The fact that the condition also causes infertility can increase the need to keep the condition private in some family situations.
All this makes raising awareness of the condition more difficult. As a patient with the condition, I can see why my fellow patients do not wish to talk about their condition to others and I totally agree with them.
However, I do like talking about my condition and I refuse to be embarrassed just because I have this condition. I am happy to talk about my condition with anybody to help raise awareness. Early diagnosis and early treatment can be very beneficial.
Kallmann syndrome is a rare hormonal disorder that prevents puberty from starting or fully completing. It can be a difficult condition to diagnose and often people such as myself are labelled as "late bloomers" or "late developers" well into our late teens and beyond.
Men with Kallmann syndrome such as myself do not get the normal physical development that should occur as teenagers. Even with later testosterone treatment we still do not get the development we should have got. Testosterone therapy can give us the muscle development and male sex drive but we are still left with a poor body image.
It can vary a lot between patients with but we are normally left with undersized genitalia which can severely affect our self-confidence and body image. To others, we look like anybody else, albeit perhaps a few years younger than our true age so people can not understand why we might shy of social situations and physical relationships.
Without a correct diagnosis, it can be a lonely situation, thinking that you are the only person in the world not going through puberty. Even with diagnosis and treatment, it can be difficult to have the normal male drive but lack the experience and confidence to act on the drive. Fellow patients can sometimes feel very isolated and are only really able to open up if they are fortunate enough to meet or contact fellow patients.
I have Kallmann syndrome, which means I never went through puberty. I was not diagnosed until I was the age of 23 after having years of being labelled as a late bloomer. I went to school and University just before the internet age so researching anything about my condition was difficult.
Now in the internet age using a few specific keywords I can find out information about my condition and be able to reach out and communicate with fellow patients. I can post information in Facebook patient groups to help spread information to fellow patients.
Facebook and other social media platforms do have their flaws but they can be an invaluable tool in helping patients with rare disorders find out more information about their condition.
Hiding the fact you have a rare condition you would rather keep to yourself is harder in the Facebook and Instagram world where instant information seems to be key. I think this is the price some of us have to pay in order to have access to better information about rare conditions.
#KallmannSyndrome #puberty #Facebook